(Q70485043)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

title

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient (English)

1 reference

Duchenne muscular dystrophy

11 October 2019

main subject

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

author name string

Prior TW

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

1

1 reference

11 October 2019

Papp AC

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

2

1 reference

11 October 2019

Snyder PJ

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

3

1 reference

11 October 2019

Bartolo C

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

5

1 reference

11 October 2019

Sedra MS

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

6

1 reference

11 October 2019

Western LM

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

7

1 reference

11 October 2019

Mendell JR

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

publication date

1 August 1993

1 reference

11 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

page(s)

357-360

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8401582%20AND%20SRC:MED&resulttype=core&format=json

11 October 2019

issue

4

1 reference

https://scigraph.springernature.com/pub.10.1038/ng0893-357

11 October 2019

exact match

0 references

cites work

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Point mutation in the human dystrophin gene: identification through western blot analysis

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Point mutations in the dystrophin gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Premature chain termination mutation causing Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Identification of two point mutations and a one base deletion in exon 19 of the dystrophin gene by heteroduplex formation

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Detecting single base substitutions as heteroduplex polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Improved detection of mutations in the p53 gene in human tumors as single-stranded conformation polymorphs and double-stranded heteroduplex DNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Binding sites involved in the interaction of actin with the N-terminal region of dystrophin

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Association of dystrophin and an integral membrane glycoprotein.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Membrane organization of the dystrophin-glycoprotein complex

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Glycoprotein complex anchoring dystrophin to sarcolemma

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-357

7 January 2021